An update on the genetics of ocular coloboma
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02019-3
Abstract: Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be identified from birth. This congenital anomaly is thought to be caused by maldevelopment of optic fissure closure during early eye morphogenesis. It… read more here.
Keywords: genetics ocular; medicine; genetics; coloboma ... See more keywords
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
Sign Up to like & getrecommendations! Published in 2020 at "Experimental eye research"
DOI: 10.1016/j.exer.2020.107940
Abstract: Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic… read more here.
Keywords: genetics syndromic; coach; genetics; coloboma ... See more keywords
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14213
Abstract: High myopia is one of the most common causes for blindness due to its associated complications. Genetic factor has been considered as the major cause for early‐onset high myopia (eoHM), but exact genetic defects for… read more here.
Keywords: high myopia; ocular coloboma; lof variants; hnrnph1 associated ... See more keywords